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Clinical significance of gene mutation in ctDNA analysis for hormone receptor-positive metastatic breast cancer.
- Source :
-
Breast cancer research and treatment [Breast Cancer Res Treat] 2020 Apr; Vol. 180 (2), pp. 331-341. Date of Electronic Publication: 2020 Feb 04. - Publication Year :
- 2020
-
Abstract
- Purpose: In this study, we aim to investigate the mutation spectrum of circulating tumor DNA among hormone receptor-positive metastatic breast cancer (HR-MBC) patients using ultradeep targeted resequencing. In addition, we also evaluate the correlation of mutations detected from this study with progression-free survival (PFS).<br />Materials and Methods: A total of 56 HR-MBC patients were enrolled. Cell-free DNA (cfDNA) was extracted from plasma and sequenced by using Oncomine Breast cancer cfDNA assay in this study.<br />Result: Concentration of cfDNA is correlated with a number of metastatic organs and serum CEA levels (Spearman's rank correlation p = 0.0018, p = 0.0015 respectively). Cases with high cfDNA levels (≥ 2.6 ng/μl of plasma) showed worse progression-free survival (PFS) and overall survival compared with cases with low cfDNA levels (p = 0.043 and 0.046, respectively). Among these patients, 29 patients (51.7%) have TP53 mutations, 12 patients (30.3%) have PIK3CA mutations, and 9 patients (16.0%) have ESR1 mutations. Acquisition of ESR1 mutation increased according to the lines of hormone therapy. In addition, patients with ESR1 mutation showed shorter PFS than those without mutation (log-rank p = 0.047). In the multivariate analysis, ESR1 mutation and cfDNA concentration were significant for PFS (p = 0.027 and 0.006, respectively). In conclusion, assessment of ESR1 mutation and cfDNA concentration could be useful in predicting prognosis for HR-MBCs.
- Subjects :
- Aged
Aged, 80 and over
Biomarkers, Tumor blood
Breast Neoplasms blood
Breast Neoplasms pathology
Circulating Tumor DNA blood
Female
High-Throughput Nucleotide Sequencing methods
Humans
Middle Aged
Neoplasm Metastasis
Prognosis
Receptor, ErbB-2 metabolism
Receptors, Estrogen metabolism
Receptors, Progesterone metabolism
Survival Rate
Biomarkers, Tumor genetics
Breast Neoplasms genetics
Circulating Tumor DNA genetics
Class I Phosphatidylinositol 3-Kinases genetics
Estrogen Receptor alpha genetics
Tumor Suppressor Protein p53 genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1573-7217
- Volume :
- 180
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Breast cancer research and treatment
- Publication Type :
- Academic Journal
- Accession number :
- 32020432
- Full Text :
- https://doi.org/10.1007/s10549-019-05512-5